Ear-patella-short stature syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Ear-patella-short stature syndrome

Synonyms: Meier-Gorlin syndrome

A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae) absent patellae short stature and characteristic facial features such as high forehead micrognathism with full lips and small mouth and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

Newly diagnosed with
Ear-patella-short stature syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.